Erin Rooney Riggs
4PUBLICATIONS
13CO-AUTHORS
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Publications (4)
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|Oct 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.Courtney Thaxton, Molly E Good, Marina T DiStefano
|Oct 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.Ingo Helbig, Erin Rooney Riggs, Carrie-Anne Barry
|Oct 13, 2018
ClinGen's GenomeConnect registry enables patient-centered data sharing.Juliann M Savatt, Danielle R Azzariti, W Andrew Faucett
|Aug 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.Erin R Riggs, Tristan Nelson, Andrew Merz
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Frequent Collaborators
2 joint publications
Heidi L Rehm
1 joint publications
Dimitri J Stavropoulos
1 joint publications
Juliann M Savatt
1 joint publications
Danielle R Azzariti
1 joint publications
W Andrew Faucett
1 joint publications
Steven Harrison
1 joint publications
Melissa J Landrum
1 joint publications
David H Ledbetter
1 joint publications
Karen E Wain
1 joint publications
Christa Lese Martin
